ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.775C>T (p.Arg259Trp)

dbSNP: rs61742258
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002211374 SCV002498200 likely pathogenic not provided 2022-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994411 SCV004803238 uncertain significance not specified 2024-02-16 criteria provided, single submitter clinical testing Variant summary: GALNS c.775C>T (p.Arg259Trp) results in a non-conservative amino acid change located in the Sulfatase, N-terminal (IPR000917) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250168 control chromosomes. c.775C>T has been reported in the literature in at-least three unrelated individuals affected with Mucopolysaccharidosis Type IVA (Morquio Syndrome A), in each case, this variant was seen along with a different apparently pathogenic variant (example, Lv_2021, Moosa_2022, Yi_2022). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 34557487, 35616356, 35212421). ClinVar contains an entry for this variant (Variation ID: 1675645). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
GeneDx RCV002211374 SCV005331928 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35212421, 34557487, 35616356)
Fulgent Genetics, Fulgent Genetics RCV005008479 SCV005641485 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2024-03-23 criteria provided, single submitter clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV005008479 SCV005873750 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-05-31 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.